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Updated: Jul 6, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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一个从复杂的结构变异中获得的生殖线仿真 KANK1-DMRT1 转录与先天性心脏缺陷有关,在五代人中分离

Silvia Souza Costa1, Veniamin Fishman2, Mara Pinheiro1

  • 1University of São Paulo.

Research square
|January 3, 2024
PubMed
概括

这项研究解决了一种复杂的9p24重组,导致一个家庭的先天性心脏缺陷. 先进的基因组技术发现了一种新的结构变异,使得生殖选择的遗传生物标志物能够发展.

关键词:
这就是KANK1的意思.生产性肺和大动脉膜狭窄症.细菌系 昆默的转录肺动脉狭窄症 肺动脉狭窄症结构变化的结构变化.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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